Journal of assisted reproduction and genetics
-
J. Assist. Reprod. Genet. · Mar 2020
ReviewFertility preservation in breast cancer with case-based examples for guidance.
With more young breast cancer survivors, a trend toward having children later in life, and improvements in assisted reproductive technology (ART), fertility preserving techniques are of growing importance prior to initiation of gonadotoxic treatments. The American Society for Clinical Oncology (ASCO) updated their Fertility Preservation in Patients with Cancer guidelines in April of 2018. ASCO continues to recognize oocyte and embryo cryopreservation as standard practice for women interested in preserving fertility and sperm cryopreservation as standard practice for men. ⋯ The NCCN's Version 1.2018 Clinical Practice Guidelines® for treatment of breast cancer include fertility counseling as part of their work-up in all types of breast cancer for premenopausal women. The purpose of this review is to explain the indications and evidence for the different methods of FP for young breast cancer patients in accordance with ASCO and NCCN guidelines. The guidance will then be applied to three theoretical clinical cases in order to highlight actual use in clinical practice.
-
J. Assist. Reprod. Genet. · Dec 2019
Counseling young women with early breast cancer on fertility preservation.
Women with early-stage breast cancer may still have a future child wish, while chemotherapy may impair fertility. To pursue on fertility preservation shortly after breast cancer diagnosis is complex. This review holds a critical reflection on all topics that need to be counseled to give them the opportunity to make a well-informed decision before starting any oncological treatment. ⋯ Women with an early stage of breast cancer and a possible future child wish should be referred to an expertise center in breast cancer, fertility preservation, and genetics in this complex decision-making process, shortly after diagnosis.
-
J. Assist. Reprod. Genet. · Jan 2019
Minimizing mosaicism: assessing the impact of fertilization method on rate of mosaicism after next-generation sequencing (NGS) preimplantation genetic testing for aneuploidy (PGT-A).
Advances in preimplantation genetic testing (PGT) have led to practice changes in assisted reproductive technologies (ART), enabling fertility centers to transfer single embryos while maintaining excellent ongoing pregnancy rates, reducing miscarriage rates, and dramatically reducing ART-associated multiple pregnancies. The introduction of next-generation sequencing (NGS) allows PGT laboratories to assess for embryo mosaicism-although the true incidence and reproductive potential of predicted mosaic embryos are controversial. Due to concern for genetic contamination from other spermatozoa, most reference laboratories require use of intracytoplasmic sperm injection (ICSI) for single gene preimplantation genetic diagnosis (PGT-M). However, in PGT for aneuploidy (PGT-A), conventional insemination (IVF) is typically permissible. The purpose of this study was to evaluate rates of euploid, aneuploid, and mosaic in trophectoderm biopsy samples from embryos in IVF versus ICSI PGT-A cycles. Secondary aims were to assess sex ratio, and subtypes of aneuploidy and mosaicism in IVF versus ICSI PGT-A cycles. ⋯ IVF and ICSI NGS PGT-A have similar rates of euploid, aneuploid, and no result embryos, though IVF may result in higher rates of mosaicism and demonstrates differences in proportions of mosaic and aneuploid subtypes compared to ICSI. ICSI may be preferable to conventional insemination to minimize the rate of mosaic results in NGS PGT-A cycles.
-
J. Assist. Reprod. Genet. · Dec 2018
ReviewConnecting links between genetic factors defining ovarian reserve and recurrent miscarriages.
Approximately 1-2% of the women faces three or more successive spontaneous miscarriages termed as recurrent miscarriage (RM). Many clinical factors have been attributed so far to be the potential risk factors in RM, including uterine anomalies, antiphospholipid syndrome, endocrinological abnormalities, chromosomal abnormalities, and infections. However, in spite of extensive studies, reviews, and array of causes known to be associated with RM, about 50% cases encountered by treating physicians remains unknown. The aims of this study were to evaluate recent publications and to explore oocyte-specific genetic factors that may have role in incidence of recurrent miscarriages. ⋯ In light of connecting etiological link between infertility and RM as reviewed in this study, interrogating the oocyte-specific genes with suspected roles in reproductive biology, in cases of unexplained RM, may open new possibilities in widening our understanding of RM pathophysiology.